ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.1505_1506insGA (p.Phe502fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003468047 SCV004193537 likely pathogenic Retinitis pigmentosa 25 2023-01-29 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003939055 SCV004755493 pathogenic EYS-related disorder 2023-11-22 no assertion criteria provided clinical testing The EYS c.1505_1506insGA variant is predicted to result in a frameshift and premature protein termination (p.Phe502Leufs*14). To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Frameshift variants in EYS are expected to be pathogenic. Therefore, we interpret this variant as pathogenic.

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